A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590178



Internal ID6630465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29402903..29403963hg38UCSC Ensembl
Innerchr2:29402953..29403913hg38UCSC Ensembl
Outerchr2:29402851..29404015hg38UCSC Ensembl
chr2:29625769..29626829hg19UCSC Ensembl
Innerchr2:29625819..29626779hg19UCSC Ensembl
Outerchr2:29625717..29626881hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg381061
hg191061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10438564, essv10438567, essv10438565, essv10438563, essv10438566
SamplesHG03785, HG03784, HG03960, HG03773, HG04025
Known GenesALK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590178
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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